遗传性血栓形成倾向对波兰人群复发性流产的影响。

Contribution of inherited thrombophilia to recurrent miscarriage in the Polish population.

作者信息

Wolski Hubert, Barlik Magdalena, Drews Krzysztof, Klejewski Andrzej, Kurzawińska Grażyna, Ożarowski Marcin, Łowicki Zdzisław, Seremak-Mrozikiewicz Agnieszka

机构信息

Division of Perinatology and Women's Diseases, Poznan University of Medical Sciences, Poznan, Poland; Laboratory of Molecular Biology, Division of Perinatology and Women's Diseases, Poznan University of Medical Sciences, Poznan, Poland.

出版信息

Ginekol Pol. 2017;88(7):385-392. doi: 10.5603/GP.a2017.0072.

DOI:10.5603/GP.a2017.0072

PMID:28819944

Abstract

INTRODUCTION

The aim of the study was to evaluate the contribution of genetic variants determining inherited thrombophilia to recurrent miscarriage (RM) in the Polish population. The following polymorphisms were analyzed: 1691G>A, 1328T>C of coagulation factor V, 20210G>A of coagulation factor II, R353Q (11496G>A) of coagulation factor VII, 667C>T, 1298A>C, 1793G>A of MTHFR.

MATERIAL AND METHODS

A total of 359 women with ≥ 2 subsequent recurrent miscarriages (303 < 13 weeks of gestation (w.g.) and 56 between 13-22 w.g.) and 400 healthy controls were included in the study. Frequency of the genetic polymor-phisms was determined with the PCR/RFLP method.

RESULTS

Higher frequency of the 20210GA genotype was found in the RM < 13 w.g. (2.97 vs. 1.50% in controls, OR = 2.01, ns) and the RM 13-22 w.g. (5.36 vs. 1.50% in controls, OR = 3.72, p = 0.09) subgroups. Statistically significantly higher frequency of the 11496GA genotype was noted in controls as compared to the RM 13-22 w.g. subgroup (10.71 vs. 23.00% in controls, OR = 0.40, p = 0.02). Statistically significantly higher frequency of the 1793GA genotype was observed in the RM < 13 w.g. subgroup as compared to controls (12.21 vs. 7.75% in controls, OR = 1.66, p = 0.03). No significant correlations were found as far as the rest of the analyzed polymorphisms are concerned.

CONCLUSIONS

The obtained results suggest that the 1793G>A MTHFR, R353Q (11496G>A) factor VII gene and the 20210G>A factor II gene polymorphisms play a role in the etiology of RM in the Polish population.

摘要

引言

本研究旨在评估决定遗传性血栓形成倾向的基因变异对波兰人群复发性流产（RM）的影响。分析了以下多态性：凝血因子V的1691G>A、1328T>C，凝血因子II的20210G>A，凝血因子VII的R353Q（11496G>A），亚甲基四氢叶酸还原酶（MTHFR）的667C>T、1298A>C、1793G>A。

材料与方法

本研究共纳入359例有≥2次复发性流产的女性（303例妊娠<13周（w.g.），56例妊娠13 - 22周（w.g.））以及400例健康对照。采用聚合酶链反应/限制性片段长度多态性（PCR/RFLP）方法测定基因多态性的频率。

结果

在妊娠<13周的复发性流产组中发现20210GA基因型的频率较高（对照组为1.50%，该组为2.97%，比值比（OR）=2.01，无统计学意义），在妊娠13 - 22周的复发性流产组中也较高（对照组为1.50%，该组为5.36%，OR = 3.72，p = 0.09）。与妊娠13 - 22周的复发性流产亚组相比，对照组中11496GA基因型的频率在统计学上显著更高（对照组为10.71%，该亚组为23.00%，OR = 0.40，p = 0.02）。与对照组相比，在妊娠<13周的复发性流产亚组中观察到1793GA基因型的频率在统计学上显著更高（对照组为7.75%，该亚组为12.21%，OR = 1.66，p = 0.03）。就其余分析的多态性而言，未发现显著相关性。